Property Summary

NCBI Gene PubMed Count 20
PubMed Score 14.67
PubTator Score 11.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma 1.241 1.2e-04
atypical teratoid / rhabdoid tumor 1.100 7.2e-06
glioblastoma 1.100 8.5e-04
primitive neuroectodermal tumor 1.200 4.7e-03
group 4 medulloblastoma 1.300 5.4e-07
pituitary cancer 1.100 2.8e-03
facioscapulohumeral dystrophy 1.700 3.7e-02

Pathway (1)

Gene RIF (7)

PMID Text
26426422 CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family
26378684 We identified a novel variant (rs7164338) on chromosome 15q25.1 in the CIB2 associated with lower pulse wave velocity.
24022220 Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa and whirlin, suggesting CIB2 is a Ca2+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells.
23023331 Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses
22779914 CIB2, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation.
20174665 Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies calcium and integrin binding family member 2 (CIB2) is important for HIV-1 replication
18976975 Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies calcium and integrin binding family member 2 (CIB2) is important for HIV-1 replication

AA Sequence

MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPF      1 - 70
KERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSEL     71 - 140
DEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI                           141 - 187
//

Text Mined References (21)

PMID Year Title
26426422 2015 A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
26378684 2016 Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity.
26173970 2016 Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
24616153 2014 Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
24428592 2014 Rare case of peritoneal complete hydatidiform mole.
24239741 2014 Usher protein functions in hair cells and photoreceptors.
24022220 2013 Usher proteins in inner ear structure and function.
23331261 2013 Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.
23275889 2012 A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
22779914 2012 Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
15711797 2005 DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9931475 1999 Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene.
9630066 1998 Overgrowth syndromes and genomic imprinting: from mouse to man.